Blar i Faculty of Medicine på emneord "Ataxia"
Viser treff 1-4 av 4
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Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases
(Peer reviewed; Journal article, 2015-09-04)Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ... -
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
(Peer reviewed; Journal article, 2013-01-03)Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ... -
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
(Journal article, 2017-02)We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and ... -
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
(Peer reviewed; Journal article, 2014-09-26)Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...